A Tywyn man is fighting the NHS for access to a potentially life-changing drug.

Mark Edwards suffers from a rare lifelong condition called Phenylketonuria (PKU), where the body cannot breakdown the amino acid phenylanaline.

He can only eat 6g of protein a day, the equivalent of two tablespoons of baked beans.

The only treatment available in the UK for PKU is dietary therapy – an extremely restrictive and regimented low-protein diet, devoid of most foods that the general population takes for granted.

Failure to adhere to the diet can result in severe mental retardation in children, seizure, severe anxiety and depression, nerve damage and a host of other devastating neurological and executive functioning consequences.

Kuvan, a drug produced by BioMarin, works to lower the blood phenylanaline concentrations in those who respond to it, and in some cases has even rendered the restrictive diet unnecessary.

BioMarin holds the patent of Kuvan even though they did not invent the drug.

A petition started by a small group of patient-led activists asking BioMarin to lower the price of Kuvan has amassed more than 13,000 signatures so far, with the ongoing battle to secure the drug for UK PKU sufferers hitting national news headlines.

“The system used by the National Institute for Health and Care Excellence and the NHS to apprise drugs for rare diseases, such as Kuvan, are inadequate, and sufferers of conditions such as PKU have been massively failed by the system,” said Mark.

A Welsh Government spokesperson said: “The National Institute for Health and Care Excellence has not yet finished their appraisal of Kuvan. Therefore Kuvan is not routinely available on the NHS.

“All clinicians in Wales may make an individual patient funding request to the local health board if they wish to provide a treatment which is not routinely available.”

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